|Institutional Source||Beutler Lab|
|Gene Name||hemochromatosis type 2 (juvenile)|
|Synonyms||5230400G09Rik, DL-M, Rgmc, hemojuvelin, HJV, 2310035L15Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7044 (G1)|
|Chromosomal Location||96525172-96529210 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 96527474 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 176 (H176Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046659 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049208]|
AA Change: H176Q
PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: H176Q
|Meta Mutation Damage Score||0.0787|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lack of hepcidin expression, severe iron overload and male sterility. Mice homozygous for a different knock-out allele display systemic iron overload, a severe deficit in hepcidin production, overexpression of ferroportin but normal male fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hfe2||
(F):5'- AGGACCTGATGATCCAGCAC -3'
(R):5'- TTGATGGAAGGAAGCCATTCAG -3'
(F):5'- TGATGATCCAGCACAACTGC -3'
(R):5'- CATTCAGGATGGAAGGGAATGTTTG -3'